Features include always present findings: Moderate intellectual disability, Motor delay, Intellectual disability, and Global developmental delay and others; and very common findings: Downslanted palpebral fissures. 43 total HPO annotations.

MAN1B1 encodes mannosidase alpha class 1B member 1 (699 aa). Involved in glycoprotein quality control targeting of misfolded glycoproteins for degradation. Highest expression in Cells Cultured fibroblasts (63.3 TPM) and Nerve Tibial (51.8 TPM).

Rafiq syndrome is associated with mutations in the MAN1B1 gene on chromosome 9.

The MAN1B1 protein participates in Defective MAN1B1 causes MRT15, Progressive trimming of alpha-1,2-linked mannose residues from Man9/8/7GlcNAc2 to produce Man5GlcNAc2, and MAN1B1 hydrolyses 1,2-linked mannose (c branch) pathways.

MAN1B1 is classified as a druggable target (Druggable Genome and Enzyme categories) with score 1.1.

Genetic testing for MAN1B1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for Rafiq syndrome has been reported in the published literature.

Phenotype severity distribution: 5 always present features, 1 very common feature, 21 common features.

No clinical trials have been registered for Rafiq syndrome.

37 publications have been identified in PubMed for Rafiq syndrome. Research spans Case Report / Case Series (43%), Basic Science / Preclinical (24%), and Review / Meta-Analysis (19%).